Variant report

Variant	rs73114446
Chromosome Location	chr12:57427327-57427328
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr12:57427258-57427625	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:57427246-57427658	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr12:57427247-57427543	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr12:57427250-57427616	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr12:57427247-57427645	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr12:57427257-57427561	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr12:57427258-57427543	MCF10A-Er-Src	breast:	n/a	n/a
8	E2F4	chr12:57427203-57427593	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:57425387..57428930-chr12:57434090..57438010,3	K562	blood:
2	chr12:57425392..57428164-chr12:57428650..57431698,4	K562	blood:
3	chr12:57419477..57423576-chr12:57424923..57428505,3	K562	blood:

Variant related genes	Relation type
TAC3	TF binding region
MYO1A	TF binding region
ENSG00000166863	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10400412	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10400555	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1044939	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10506347	0.83[AMR][1000 genomes]
rs10506350	0.91[ASN][1000 genomes]
rs10506351	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1072670	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11832487	0.86[ASN][1000 genomes]
rs11834851	0.89[ASN][1000 genomes]
rs11834856	0.89[ASN][1000 genomes]
rs11836517	0.89[ASN][1000 genomes]
rs12099695	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12810024	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12810837	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12812499	0.88[ASN][1000 genomes]
rs12815538	0.89[ASN][1000 genomes]
rs12818342	0.91[ASN][1000 genomes]
rs12824682	0.89[ASN][1000 genomes]
rs12827039	0.89[ASN][1000 genomes]
rs12827286	0.85[ASN][1000 genomes]
rs1552245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119301	0.90[ASN][1000 genomes]
rs17119327	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119330	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119344	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17119352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119386	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17119388	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17119390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17119407	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17119416	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17119418	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1843311	0.89[ASN][1000 genomes]
rs1843312	0.89[ASN][1000 genomes]
rs1843313	0.89[ASN][1000 genomes]
rs2035545	0.81[ASN][1000 genomes]
rs2167306	0.89[ASN][1000 genomes]
rs2233267	0.80[ASN][1000 genomes]
rs2270736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2270737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270739	0.99[ASN][1000 genomes]
rs2279373	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2279743	0.90[ASN][1000 genomes]
rs2291855	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2371717	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28589663	0.91[ASN][1000 genomes]
rs2888139	0.88[ASN][1000 genomes]
rs34186462	0.89[ASN][1000 genomes]
rs34253098	0.89[ASN][1000 genomes]
rs34359134	0.89[ASN][1000 genomes]
rs34762603	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34969650	0.89[ASN][1000 genomes]
rs35034299	0.89[ASN][1000 genomes]
rs35243318	0.89[ASN][1000 genomes]
rs35493121	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35937600	0.81[ASN][1000 genomes]
rs3759135	0.80[ASN][1000 genomes]
rs3782329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3782330	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3803018	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3894415	0.90[ASN][1000 genomes]
rs4016338	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4039	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4143085	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56128678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56270558	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56354404	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57056392	0.99[ASN][1000 genomes]
rs57129030	0.89[ASN][1000 genomes]
rs57351760	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs57558853	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58298943	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58389529	1.00[ASN][1000 genomes]
rs60258120	0.88[ASN][1000 genomes]
rs60273384	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60380217	0.89[ASN][1000 genomes]
rs61504157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66741626	0.81[ASN][1000 genomes]
rs67476535	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67771054	0.89[ASN][1000 genomes]
rs67844278	0.90[ASN][1000 genomes]
rs68126184	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs697222	0.88[ASN][1000 genomes]
rs7135297	0.89[ASN][1000 genomes]
rs7136770	0.93[ASN][1000 genomes]
rs71461303	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72482268	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7298475	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73114426	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73114428	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73114434	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73114436	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73114437	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73114452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73114457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114467	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73114472	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73116494	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73116501	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73118413	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73118416	0.80[ASN][1000 genomes]
rs73118418	0.80[ASN][1000 genomes]
rs73131120	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs733629	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs746049	0.89[ASN][1000 genomes]
rs7487948	0.89[ASN][1000 genomes]
rs754398	0.94[ASN][1000 genomes]
rs755221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7956166	0.89[ASN][1000 genomes]
rs7961920	0.99[ASN][1000 genomes]
rs7962771	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7969312	0.89[ASN][1000 genomes]
rs7972615	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs901068	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899110	chr12:57422934-57472502	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57416800-57439400	Strong transcription	Fetal Intestine Small	intestine
2	chr12:57417200-57441200	Weak transcription	Small Intestine	intestine
3	chr12:57419200-57439400	Strong transcription	Duodenum Mucosa	Duodenum
4	chr12:57419800-57439600	Strong transcription	Fetal Intestine Large	intestine
5	chr12:57420000-57440000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr12:57420400-57471800	Weak transcription	Gastric	stomach
7	chr12:57421800-57441600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:57424200-57431400	Weak transcription	Fetal Stomach	stomach
9	chr12:57424200-57431600	Weak transcription	Colonic Mucosa	Colon
10	chr12:57424800-57427400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:57424800-57427800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:57425600-57427400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:57425600-57432000	Weak transcription	K562	blood
14	chr12:57425800-57427600	Enhancers	NHEK	skin
15	chr12:57426000-57428800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:57426000-57433000	Weak transcription	Fetal Thymus	thymus
17	chr12:57426000-57433200	Weak transcription	Thymus	Thymus
18	chr12:57426400-57433200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr12:57426600-57427800	Enhancers	HMEC	breast
20	chr12:57426600-57432200	Weak transcription	Placenta	Placenta
21	chr12:57427000-57433200	Weak transcription	Primary T cells from cord blood	blood
22	chr12:57427200-57429000	Weak transcription	Rectal Mucosa Donor 31	rectum

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